Nathan Kinsey, Janelle M Belanger, Anita M Oberbauer
{"title":"与比利时牧羊犬特发性癫痫有关的差异基因表达。","authors":"Nathan Kinsey, Janelle M Belanger, Anita M Oberbauer","doi":"10.3390/genes15111474","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Idiopathic epilepsy (IE) disproportionately affects Belgian shepherd dogs and although genomic risk markers have been identified previously in the breed, causative variants have not been described.</p><p><strong>Methods: </strong>The current study analyzed differences in whole blood RNA expression associated with IE and with a previously identified IE risk haplotype on canine chromosome (CFA) 14 using a transcriptomics RNA-seq approach.</p><p><strong>Results: </strong><i>MFSD2A</i> and a likely pseudogene of <i>RPL19</i>, both of which are genes implicated in seizure activity, were upregulated in dogs with IE. Genes in the interferon signaling pathway were downregulated in Belgian shepherds with IE. The CFA14 risk haplotype was associated with upregulation of <i>CLIC1</i>, <i>ACE2</i>, and <i>PIGN</i> and downregulation of <i>EPDR1</i>, all known to be involved with epilepsy or the Wnt/β-catenin signaling pathway.</p><p><strong>Conclusions: </strong>These results highlight the value of assessing gene expression in canine IE research to uncover genomic contributory factors.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"15 11","pages":""},"PeriodicalIF":2.8000,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11593353/pdf/","citationCount":"0","resultStr":"{\"title\":\"Differential Gene Expression Associated with Idiopathic Epilepsy in Belgian Shepherd Dogs.\",\"authors\":\"Nathan Kinsey, Janelle M Belanger, Anita M Oberbauer\",\"doi\":\"10.3390/genes15111474\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Idiopathic epilepsy (IE) disproportionately affects Belgian shepherd dogs and although genomic risk markers have been identified previously in the breed, causative variants have not been described.</p><p><strong>Methods: </strong>The current study analyzed differences in whole blood RNA expression associated with IE and with a previously identified IE risk haplotype on canine chromosome (CFA) 14 using a transcriptomics RNA-seq approach.</p><p><strong>Results: </strong><i>MFSD2A</i> and a likely pseudogene of <i>RPL19</i>, both of which are genes implicated in seizure activity, were upregulated in dogs with IE. Genes in the interferon signaling pathway were downregulated in Belgian shepherds with IE. The CFA14 risk haplotype was associated with upregulation of <i>CLIC1</i>, <i>ACE2</i>, and <i>PIGN</i> and downregulation of <i>EPDR1</i>, all known to be involved with epilepsy or the Wnt/β-catenin signaling pathway.</p><p><strong>Conclusions: </strong>These results highlight the value of assessing gene expression in canine IE research to uncover genomic contributory factors.</p>\",\"PeriodicalId\":12688,\"journal\":{\"name\":\"Genes\",\"volume\":\"15 11\",\"pages\":\"\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-11-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11593353/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genes\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.3390/genes15111474\",\"RegionNum\":3,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genes","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.3390/genes15111474","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Differential Gene Expression Associated with Idiopathic Epilepsy in Belgian Shepherd Dogs.
Background: Idiopathic epilepsy (IE) disproportionately affects Belgian shepherd dogs and although genomic risk markers have been identified previously in the breed, causative variants have not been described.
Methods: The current study analyzed differences in whole blood RNA expression associated with IE and with a previously identified IE risk haplotype on canine chromosome (CFA) 14 using a transcriptomics RNA-seq approach.
Results: MFSD2A and a likely pseudogene of RPL19, both of which are genes implicated in seizure activity, were upregulated in dogs with IE. Genes in the interferon signaling pathway were downregulated in Belgian shepherds with IE. The CFA14 risk haplotype was associated with upregulation of CLIC1, ACE2, and PIGN and downregulation of EPDR1, all known to be involved with epilepsy or the Wnt/β-catenin signaling pathway.
Conclusions: These results highlight the value of assessing gene expression in canine IE research to uncover genomic contributory factors.
期刊介绍：
Genes (ISSN 2073-4425) is an international, peer-reviewed open access journal which provides an advanced forum for studies related to genes, genetics and genomics. It publishes reviews, research articles, communications and technical notes. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
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